Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon

Aims: While lifestyle factors are strongly associated with Type 2 diabetes (T2DM), genetic characteristics also play a role. However, much of the research on T2DM genetics focuses on European and Asian populations, leaving underrepresented groups, such as indigenous populations with high diabetes pr...

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Principais autores: Monte, Natasha, Rodrigues, Juliana Carla Gomes, Vinagre, Lui Wallacy Morikawa Souza, Pastana, Lucas Favacho, Alcântara, Angélica Leite de, Leitão, Luciana Pereira Colares, Santos, André Maurício Ribeiro dos, Fernandes, Marianne Rodrigues, Santos, Andrea Kely Campos Ribeiro dos, Guerreiro, João Farias, Assumpção, Paulo Pimentel, Santos, Sidney, Souza, Sandro José de, Santos, Ney Pereira Carneiro dos
Formato: article
Idioma:English
Publicado em: Elsevier BV
Assuntos:
Exome
Genomics
Indigenous populations
T2DM
Endereço do item:https://repositorio.ufrn.br/handle/123456789/52230
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spelling ri-123456789-522302023-04-25T19:09:25Z Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon Monte, Natasha Rodrigues, Juliana Carla Gomes Vinagre, Lui Wallacy Morikawa Souza Pastana, Lucas Favacho Alcântara, Angélica Leite de Leitão, Luciana Pereira Colares Santos, André Maurício Ribeiro dos Fernandes, Marianne Rodrigues Santos, Andrea Kely Campos Ribeiro dos Guerreiro, João Farias Assumpção, Paulo Pimentel Santos, Sidney Souza, Sandro José de Santos, Ney Pereira Carneiro dos Exome Genomics Indigenous populations T2DM Aims: While lifestyle factors are strongly associated with Type 2 diabetes (T2DM), genetic characteristics also play a role. However, much of the research on T2DM genetics focuses on European and Asian populations, leaving underrepresented groups, such as indigenous populations with high diabetes prevalence, understudied. Methods: We characterized the molecular profile of 10 genes involved in T2DM risk through complete exome sequencing of 64 indigenous individuals belonging to 12 different Amazonian ethnic groups. Results: The analysis revealed 157 variants, including four exclusive variants in the indigenous population located in the NOTCH2 and WFS1 genes with a modifier or moderate impact on protein effectiveness. Furthermore, a high impact variant in NOTCH2 was also found. Additionally, the frequency of 10 variants in the indigenous group showed significant differences when compared to other global populations that were evaluated. Conclusion: Our study identified 4 novel variants associated with T2DM in the NOTCH2 and WFS1 genes in the Amazonian indigenous populations we studied. In addition, a variant with a high predicted impact in NOTCH2 was also observed. These findings represent a valuable starting point for conducting further association and functional studies, which could help to improve our understanding of the unique characteristics of this population 2023-04-25T19:09:25Z 2023-04-25T19:09:25Z 2023-03 article MONTE, Natasha; RODRIGUES, Juliana Carla Gomes; VINAGRE, Lui Wallacy Morikawa Souza; PASTANA, Lucas Favacho; ALCÂNTARA, Angélica Leite de; LEITÃO, Luciana Pereira Colares; RIBEIRO-DOS-SANTOS, André Maurício; FERNANDES, Marianne Rodrigues; RIBEIRO-DOS-SANTOS, Ândrea; GUERREIRO, João Farias; GUERREIRO, Paulo Pimentel; SANTOS, Sidney; SOUZA, Sandro José de; SANTOS, Ney Pereira Carneiro dos. Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon. Diabetes Research And Clinical Practice, [S.l.], v. 199, p. 110641, mar. 2023. Doi: http://dx.doi.org/10.1016/j.diabres.2023.110641. Disponível em: https://www.sciencedirect.com/science/article/pii/S0168822723004011?via%3Dihub. Acesso em: 25 abr. 2023. https://repositorio.ufrn.br/handle/123456789/52230 10.1016/j.diabres.2023.110641 en Atribuição-NãoComercial-SemDerivados 3.0 Brasil http://creativecommons.org/licenses/by-nc-nd/3.0/br/ application/pdf Elsevier BV
institution Repositório Institucional
collection RI - UFRN
language English
topic Exome
Genomics
Indigenous populations
T2DM
spellingShingle Exome
Genomics
Indigenous populations
T2DM
Monte, Natasha
Rodrigues, Juliana Carla Gomes
Vinagre, Lui Wallacy Morikawa Souza
Pastana, Lucas Favacho
Alcântara, Angélica Leite de
Leitão, Luciana Pereira Colares
Santos, André Maurício Ribeiro dos
Fernandes, Marianne Rodrigues
Santos, Andrea Kely Campos Ribeiro dos
Guerreiro, João Farias
Assumpção, Paulo Pimentel
Santos, Sidney
Souza, Sandro José de
Santos, Ney Pereira Carneiro dos
Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon
description Aims: While lifestyle factors are strongly associated with Type 2 diabetes (T2DM), genetic characteristics also play a role. However, much of the research on T2DM genetics focuses on European and Asian populations, leaving underrepresented groups, such as indigenous populations with high diabetes prevalence, understudied. Methods: We characterized the molecular profile of 10 genes involved in T2DM risk through complete exome sequencing of 64 indigenous individuals belonging to 12 different Amazonian ethnic groups. Results: The analysis revealed 157 variants, including four exclusive variants in the indigenous population located in the NOTCH2 and WFS1 genes with a modifier or moderate impact on protein effectiveness. Furthermore, a high impact variant in NOTCH2 was also found. Additionally, the frequency of 10 variants in the indigenous group showed significant differences when compared to other global populations that were evaluated. Conclusion: Our study identified 4 novel variants associated with T2DM in the NOTCH2 and WFS1 genes in the Amazonian indigenous populations we studied. In addition, a variant with a high predicted impact in NOTCH2 was also observed. These findings represent a valuable starting point for conducting further association and functional studies, which could help to improve our understanding of the unique characteristics of this population
format article
author Monte, Natasha
Rodrigues, Juliana Carla Gomes
Vinagre, Lui Wallacy Morikawa Souza
Pastana, Lucas Favacho
Alcântara, Angélica Leite de
Leitão, Luciana Pereira Colares
Santos, André Maurício Ribeiro dos
Fernandes, Marianne Rodrigues
Santos, Andrea Kely Campos Ribeiro dos
Guerreiro, João Farias
Assumpção, Paulo Pimentel
Santos, Sidney
Souza, Sandro José de
Santos, Ney Pereira Carneiro dos
author_facet Monte, Natasha
Rodrigues, Juliana Carla Gomes
Vinagre, Lui Wallacy Morikawa Souza
Pastana, Lucas Favacho
Alcântara, Angélica Leite de
Leitão, Luciana Pereira Colares
Santos, André Maurício Ribeiro dos
Fernandes, Marianne Rodrigues
Santos, Andrea Kely Campos Ribeiro dos
Guerreiro, João Farias
Assumpção, Paulo Pimentel
Santos, Sidney
Souza, Sandro José de
Santos, Ney Pereira Carneiro dos
author_sort Monte, Natasha
title Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon
title_short Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon
title_full Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon
title_fullStr Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon
title_full_unstemmed Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon
title_sort epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the brazilian amazon
publisher Elsevier BV
publishDate 2023
url https://repositorio.ufrn.br/handle/123456789/52230
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